ClinVar Miner

List of variants reported as pathogenic for Skraban-Deardorff syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1
NM_001379403.1(WDR26):c.1039dup (p.Thr347fs)
NM_001379403.1(WDR26):c.1062T>G (p.Ser354Arg) rs150512167
NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn) rs1553359384
NM_001379403.1(WDR26):c.1204_1205del (p.Gln402fs) rs1553359034
NM_001379403.1(WDR26):c.1319+1G>A rs1673963444
NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter)
NM_001379403.1(WDR26):c.1458+1G>A rs1673733539
NM_001379403.1(WDR26):c.1461_1462del (p.His489fs) rs1553354980
NM_001379403.1(WDR26):c.1498del (p.His500fs) rs2102897826
NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) rs1553354926
NM_001379403.1(WDR26):c.1757del (p.Val586fs) rs1553353378
NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter) rs2102891563
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly) rs1673189476
NM_001379403.1(WDR26):c.365del (p.Gly122fs) rs2102930721
NM_001379403.1(WDR26):c.390_412del (p.Leu132fs) rs2102930594
NM_001379403.1(WDR26):c.454del (p.Asp152fs) rs1572227260
NM_001379403.1(WDR26):c.492dup (p.Ser165fs) rs2102930403
NM_001379403.1(WDR26):c.773_776del (p.Pro258fs) rs2102926443
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001379403.1(WDR26):c.834_838del (p.Asp278fs)
Single allele

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